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FLASH GENE
Symbol GHITM contributors: mct - updated : 01-06-2016
HGNC name growth hormone inducible transmembrane protein
HGNC id 17281
Location 10q23.1      Physical location : 85.899.184 - 85.913.311
Synonym name
  • dermal papilla-derived protein 2
  • transmembrane BAX inhibitor motif containing 5
  • mitochondrial morphology and cristae structure 1
    • Synonym symbol(s) DERP2, My021, PTD010, HSPC282, DKFZp566C0746, FLJ26584, HSPC282, MICS1, TMBIM5
    DNA
    TYPE functioning gene
    STRUCTURE 14.13 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389990 10 similar to Replication protein A 32 kDa subunit (RP-A) (RF-A) (Replication factor-A protein 2) NRG3 10q22-q23 neuregulin 3 GHITM 10q23.31 growth hormone inducible transmembrane protein LOC387695 10 similar to RLLV1833 PCDH21 10q22.1-22.3 protocadherin 21 LOC340745 10q23.2 similar to RIKEN cDNA A930010E21 LRRC21 10q23 leucine rich repeat containing 21 RGR 10q23.1 retinal G protein coupled receptor KIAA1128 10q23.2 KIAA1128 protein LOC387696 10 hypothetical gene supported by L13802; NM_001006 GRID1 10q22 glutamate receptor, ionotropic, delta 1 KIAA0261 10q23.31 KIAA0261 LOC340749 10q23.31 similar to Rpl7a protein OPN4 10q22 opsin 4 (melanopsin) LDB3 10q22.3-q23.2 LIM domain binding 3 BMPR1A 10q22.3-q23.2 bone morphogenetic protein receptor, type IA EMILIN3 10q23.31 elastin microfibril interfacer 3 SNCG 10q26.2-q23.3 synuclein, gamma (breast cancer-specific protein 1) APM2 10q23.31 adipose specific 2 KIAA1975 10q23.31 KIAA1975 protein similar to MRIP2 GLUD1 10q23.3 glutamate dehydrogenase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2449 - 345 - 2008 18417609
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a common structure of at least seven transmembrane domains with the last domain being semi-hydrophobic
    • HOMOLOGY
    Homologene
    FAMILY Bax inhibitor-1 super family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • inner membrane protein
  • localized in the mitochondria
    • basic FUNCTION
  • may represent regulator of cell death pathways, which is concluded from structure conservation of BI1 family
  • involved in mitochondrial morphology in specific cristae structures and the apoptotic release of cytochrome c from the mitochondria
  • plays a role in maintaining mitochondrial morphology separately from the function in apoptotic pathways
  • facilitates the tight association of cytochrome c with the inner membrane
  • individually functions in mitochondrial morphology and cytochrome c release
  • play a role in apoptosis
  • reduce the CaČ&
    • 8314; content of the endoplasmic reticulum, and all but TMBIM5 also reduce the cytosolic resting CaČ&
    8314; concentration
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes mitochondrial fragmentation and cristae disorganization and stimulates the release of proapoptotic proteins
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS